The impact of sensitive KIT D816V detection on recognition of Indolent Systemic Mastocytosis

De Matteis, Giovanna; Zanotti, Roberta; Colarossi, S; De Benedittis, C; Garcia Montero, A; Bonifacio, Massimiliano; Sartori, M; Aprili, F; Caruso, Beatrice; Paviati, Elisa; Carli, G; Perbellini, Omar; Zamo', Alberto; Bonadonna, Patrizia; Pizzolo, Giovanni; Guidi, G; Martinelli, G; Soverini, S.

doi:10.1016/j.leukres.2014.11.029

Patients with Systemic Mastocytosis (SM) need a highly sensitive diagnostic test for D816V detection of the KIT receptor gene. Along with histology/cytology and flow cytometry evaluation, bone marrow (BM) from 110 consecutive adult patients referred with a suspicion of SM to Multidisciplinary Outpatient Clinic for Mastocytosis in Verona were tested both by Amplification Refractory Mutation System Reverse Transcriptase quantitative real time Polymerase Chain Reaction (ARMS-RT-qPCR) and RT-PCR+Restriction Fragment Length Polymorphism (RFLP) followed by Denaturing-High Performance Liquid Chromatography (D-HPLC) and Sanger sequencing. ARMS-RT-qPCR identified D816V mutation in 77 patients, corresponding to 100\% of cases showing CD25(+) mast cells (MCs) whereas RT-PCR+RFLP/D-HPLC+sequencing revealed D816V mutations in 47 patients. According to the 2008 WHO criteria 75 SM, 1 Cutaneous Mastocytosis (CM), 1 monoclonal MC activation syndrome (MMAS), and 1 SM Associated with Haematologic Non-Mast Cell Disorder (SM-AHNMD) were diagnosed. Seventeen out 75 SM patients (23\%) would have not satisfied sufficient WHO criteria on the basis of the sole RT-PCR+RFLP: these patients had significantly lower serum tryptase levels and amount of CD25(+) MCs. Therefore, ARMS-RT-qPCR might result particularly useful, in patients that do not fulfil major BM histological criterion, for the recognition of indolent SM with a very low MC burden.

Titolo:	The impact of sensitive KIT D816V detection on recognition of Indolent Systemic Mastocytosis
Autori:	DE MATTEIS, Giovanna ZANOTTI, ROBERTA Colarossi S De Benedittis C Garcia Montero A BONIFACIO, Massimiliano Sartori M Aprili F CARUSO, BEATRICE PAVIATI, Elisa Carli G PERBELLINI, Omar ZAMO', Alberto BONADONNA, PATRIZIA PIZZOLO, Giovanni Guidi G Martinelli G Soverini S. mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2015
Rivista:	LEUKEMIA RESEARCH
Handle:	http://hdl.handle.net/11562/872783
Appare nelle tipologie:	01.01 Articolo in Rivista

File in questo prodotto:

Non ci sono file associati a questo prodotto.

Utilizza questo identificativo per citare o creare un link a questo documento:
http://hdl.handle.net/11562/872783

Citazioni

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

CATALOGO DEI PRODOTTI DELLA RICERCA

File in questo prodotto: